John S Welch, Peter Westervelt, Li Ding, David E Larson, Jeffery M Klco, Shashikant Kulkarni, John Wallis, Ken Chen, Jacqueline E Payton, Robert S Fulton, Joelle Veizer, Heather Schmidt, Tammi L Vickery, Sharon Heath, Mark A Watson, Michael H Tomasson, Daniel C Link, Timothy A Graubert, John F DiPersio, Elaine R Mardis, Timothy J Ley, Richard K Wilson
CONTEXT: Whole-genome sequencing is becoming increasingly available for research purposes, but it has not yet been routinely used for clinical diagnosis. OBJECTIVE: To determine whether whole-genome sequencing can identify cryptic, actionable mutations in a clinically relevant time frame. DESIGN, SETTING, AND PATIENT: We were referred a difficult diagnostic case of acute promyelocytic leukemia with no pathogenic X-RARA fusion identified by routine metaphase cytogenetics or interphase fluorescence in situ hybridization (FISH)...
April 20, 2011: JAMA